Mitochondrial disease

  • COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
    Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, Alan J Robinson, Isabella Moroni, Daniele Ghezzi, Erika Fernandez-Vizarra, Massimo Zeviani
  • A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
    Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor
  • Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
    Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo M Xie, Marc Ferre, Konstantina Fragaki, Gaëlle Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Mylène Gilleron, Valérie Desquiret-Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil-Taris, Delphine Martinez, Pauline Gaignard, Kim-Hanh Le Quan Sang, Patrizia Amati-Bonneau, Marni J Falk, Catherine Florentz, Brigitte Chabrol, Isabelle Durand-Zaleski, Véronique Paquis-Flucklinger